De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

por Esmaeeli Nieh, Sahar, Madou, Maura R Z, Sirajuddin, Minhajuddin, Fregeau, Brieana, McKnight, Dianalee, Lexa, Katrina, Strober, Jonathan, Spaeth, Christine, Hallinan, Barbara E, Smaoui, Nizar, Pappas, John G, Burrow, Thomas A, McDonald, Marie T, Latibashvili, Mariam, Leshinsky-Silver, Esther, Lev, Dorit, Blumkin, Luba, Vale, Ronald D, Barkovich, Anthony James, Sherr, Elliott H
Publicado 2015

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

por Hildebrand, Michael S, Tankard, Rick, Gazina, Elena V, Damiano, John A, Lawrence, Kate M, Dahl, Hans-Henrik M, Regan, Brigid M, Shearer, Aiden Eliot, Smith, Richard J H, Marini, Carla, Guerrini, Renzo, Labate, Angelo, Gambardella, Antonio, Tinuper, Paolo, Lichetta, Laura, Baldassari, Sara, Bisulli, Francesca, Pippucci, Tommaso, Scheffer, Ingrid E, Reid, Christopher A, Petrou, Steven, Bahlo, Melanie, Berkovic, Samuel F
Publicado 2015

Frataxin levels in peripheral tissue in Friedreich ataxia

por Lazaropoulos, Michael, Dong, Yina, Clark, Elisia, Greeley, Nathaniel R, Seyer, Lauren A, Brigatti, Karlla W, Christie, Carlton, Perlman, Susan L, Wilmot, George R, Gomez, Christoper M, Mathews, Katherine D, Yoon, Grace, Zesiewicz, Theresa, Hoyle, Chad, Subramony, Sub H, Brocht, Alicia F, Farmer, Jennifer M, Wilson, Robert B, Deutsch, Eric C, Lynch, David R
Publicado 2015

Suppression of agrin‐22 production and synaptic dysfunction in Cln1 (−/−) mice

por Peng, Shiyong, Xu, Jianhua, Pelkey, Kenneth A., Chandra, Goutam, Zhang, Zhongjian, Bagh, Maria B., Yuan, Xiaoqing, Wu, Ling‐Gang, McBain, Chris J., Mukherjee, Anil B.
Publicado 2015

Psychiatric disorders, myoclonus dystonia and SGCE: an international study

por Peall, Kathryn J., Dijk, Joke M., Saunders‐Pullman, Rachel, Dreissen, Yasmine E. M., van Loon, Ilke, Cath, Danielle, Kurian, Manju A., Owen, Michael J., Foncke, Elisabeth M. J., Morris, Huw R., Gasser, Thomas, Bressman, Susan, Asmus, Friedrich, Tijssen, Marina A. J.
Publicado 2015

Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy

por Wagnon, Jacy L., Barker, Bryan S., Hounshell, James A., Haaxma, Charlotte A., Shealy, Amy, Moss, Timothy, Parikh, Sumit, Messer, Ricka D., Patel, Manoj K., Meisler, Miriam H.
Publicado 2015

Altered paired associative stimulation‐induced plasticity in NMDAR encephalitis

por Volz, Magdalena Sarah, Finke, Carsten, Harms, Lutz, Jurek, Betty, Paul, Friedemann, Flöel, Agnes, Prüss, Harald
Publicado 2016

Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study

por Narita, Aya, Shirai, Kentarou, Itamura, Shinji, Matsuda, Atsue, Ishihara, Akiko, Matsushita, Kumi, Fukuda, Chisako, Kubota, Norika, Takayama, Rumiko, Shigematsu, Hideo, Hayashi, Anri, Kumada, Tomohiro, Yuge, Kotaro, Watanabe, Yoriko, Kosugi, Saori, Nishida, Hiroshi, Kimura, Yukiko, Endo, Yusuke, Higaki, Katsumi, Nanba, Eiji, Nishimura, Yoko, Tamasaki, Akiko, Togawa, Masami, Saito, Yoshiaki, Maegaki, Yoshihiro, Ohno, Kousaku, Suzuki, Yoshiyuki
Publicado 2016

Plasma neurofilament light chain predicts progression in progressive supranuclear palsy

por Rojas, Julio C., Karydas, Anna, Bang, Jee, Tsai, Richard M., Blennow, Kaj, Liman, Victor, Kramer, Joel H., Rosen, Howard, Miller, Bruce L., Zetterberg, Henrik, Boxer, Adam L.
Publicado 2016

A randomized placebo‐controlled lovastatin trial for neurobehavioral function in neurofibromatosis I

por Bearden, Carrie E., Hellemann, Gerhard S., Rosser, Tena, Montojo, Caroline, Jonas, Rachel, Enrique, Nicole, Pacheco, Laura, Hussain, Shaun A., Wu, Joyce Y., Ho, Jennifer S., McGough, James J., Sugar, Catherine A., Silva, Alcino J.
Publicado 2016

A microRNA‐328 binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy

por Panjwani, Naim, Wilson, Michael D., Addis, Laura, Crosbie, Jennifer, Wirrell, Elaine, Auvin, Stéphane, Caraballo, Roberto H., Kinali, Maria, McCormick, David, Oren, Caroline, Taylor, Jacqueline, Trounce, John, Clarke, Tara, Akman, Cigdem I., Kugler, Steven L., Mandelbaum, David E., McGoldrick, Patricia, Wolf, Steven M., Arnold, Paul, Schachar, Russell, Pal, Deb K., Strug, Lisa J.
Publicado 2016

Longitudinal MRI quantification of muscle degeneration in Duchenne muscular dystrophy

por Godi, Claudia, Ambrosi, Alessandro, Nicastro, Francesca, Previtali, Stefano C., Santarosa, Corrado, Napolitano, Sara, Iadanza, Antonella, Scarlato, Marina, Natali Sora, Maria Grazia, Tettamanti, Andrea, Gerevini, Simonetta, Cicalese, Maria Pia, Sitzia, Clementina, Venturini, Massimo, Falini, Andrea, Gatti, Roberto, Ciceri, Fabio, Cossu, Giulio, Torrente, Yvan, Politi, Letterio S.
Publicado 2016

Microalbuminuria could improve risk stratification in patients with TIA and minor stroke

por Elyas, Salim, Shore, Angela C., Kingwell, Hayley, Keenan, Samantha, Boxall, Leigh, Stewart, Jane, James, Martin A., Strain, William David
Publicado 2016

Progression of Friedreich ataxia: quantitative characterization over 5 years

por Patel, Maya, Isaacs, Charles J., Seyer, Lauren, Brigatti, Karlla, Gelbard, Sarah, Strawser, Cassandra, Foerster, Debbie, Shinnick, Julianna, Schadt, Kimberly, Yiu, Eppie M., Delatycki, Martin B., Perlman, Susan, Wilmot, George R., Zesiewicz, Theresa, Mathews, Katherine, Gomez, Christopher M., Yoon, Grace, Subramony, Sub H., Brocht, Alicia, Farmer, Jennifer, Lynch, David R.
Publicado 2016

Rapid number naming in chronic concussion: eye movements in the King–Devick test

por Rizzo, John‐Ross, Hudson, Todd E., Dai, Weiwei, Birkemeier, Joel, Pasculli, Rosa M., Selesnick, Ivan, Balcer, Laura J., Galetta, Steven L., Rucker, Janet C.
Publicado 2016

Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL

por Rutten, Julie W., Dauwerse, Hans G., Gravesteijn, Gido, van Belzen, Martine J., van der Grond, Jeroen, Polke, James M., Bernal‐Quiros, Manuel, Lesnik Oberstein, Saskia A. J.
Publicado 2016

Clinical and biophysical characterization of 19 GJB1 mutations

por Tsai, Pei‐Chien, Yang, De‐Ming, Liao, Yi‐Chu, Chiu, Tai‐Yu, Kuo, Hung‐Chou, Su, Yu‐Ping, Guo, Yuh‐Cherng, Soong, Bing‐Wen, Lin, Kon‐Ping, Liu, Yo‐Tsen, Lee, Yi‐Chung
Publicado 2016

Common variant rs356182 near SNCA defines a Parkinson's disease endophenotype

por Cooper, Christine A., Jain, Nimansha, Gallagher, Michael D., Weintraub, Daniel, Xie, Sharon X., Berlyand, Yosef, Espay, Alberto J., Quinn, Joseph, Edwards, Karen L., Montine, Thomas, Van Deerlin, Vivianna M., Trojanowski, John, Zabetian, Cyrus P., Chen‐Plotkin, Alice S.
Publicado 2016

Distinct effects of obesity and puberty on risk and age at onset of pediatric MS

por Chitnis, Tanuja, Graves, Jennifer, Weinstock‐Guttman, Bianca, Belman, Anita, Olsen, Cody, Misra, Madhusmita, Aaen, Gregory, Benson, Leslie, Candee, Meghan, Gorman, Mark, Greenberg, Benjamin, Krupp, Lauren, Lotze, Timothy, Mar, Soe, Ness, Jayne, Rose, John, Rubin, Jennifer, Schreiner, Teri, Tillema, Jan, Waldman, Amy, Rodriguez, Moses, Casper, Charlie, Waubant, Emmanuelle
Publicado 2016

White matter predicts functional connectivity in premanifest Huntington's disease

por McColgan, Peter, Gregory, Sarah, Razi, Adeel, Seunarine, Kiran K., Gargouri, Fatma, Durr, Alexandra, Roos, Raymund A. C., Leavitt, Blair R., Scahill, Rachael I., Clark, Chris A., Tabrizi, Sarah J., Rees, Geraint, Coleman, A., Decolongon, J, Fan, M, Petkau, T., Jauffret, C, Justo, D, Lehericy, S, Nigaud, K, Valabrègue, R, choonderbeek, A, Hart, E P t, Hensman Moss, DJ, Crawford, H, Johnson, E, Papoutsi, M, Berna, C, Reilmann, R, Weber, N, Stout, J, Labuschagne, I, Landwehrmeyer, B, Orth, M, Johnson, H
Publicado 2017